Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

@article{Lepori2007TwentyfourNM,
  title={Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.},
  author={Maria Barbara Lepori and Mario Lovicu and Valentina Maddalena Dessi and Antonietta Zappu and Simona Incollu and Lucia Zancan and Raffaella Giacchino and Raffaele Iorio and Pietro Vajro and Giuseppe Maggiore and Matilde Marcellini and Cristiana Barbera and M. T. Pellecchia and Rosanna Simonetti and Vladimir Kostic and Anna Maria Giulia Farci and Antonello Solinas and Stefano De Virgiliis and A. Nguyen Van Cao and Georgios Loudianos},
  journal={Genetic testing},
  year={2007},
  volume={11 3},
  pages={
          328-32
        }
}
Herein we report the results of mutation analysis of the ATP7B gene in a group of 134 Wilson disease (WD) families (268 chromosomes) prevalently of Italian origin. Using the SSCP and sequencing methods we identified 71 disease-causing mutations. Twenty-four were novel, while 19 more mutations already described, were identified in new populations in this study. A known mutation G591D showed a regional distribution, since it was only detected in 38.5% of the analyzed chromosomes in WD patients… CONTINUE READING
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